Familial lipid disorders or heritable lipid disorders (extreme levels of lipid) may be caused by underlying genetic factors. They are cholesterol-related conditions that can cause heart disease and recurrent heart attacks.

If you have high LDL-cholesterol (bad cholesterol) your risk of heart and vascular disease such as heart attacks and strokes is very high. High triglyceride (fat in your blood) can cause acute pancreatitis (inflammation of pancreas).

If you have low LDL-cholesterol disorders, you run the risk of developing vitamin deficiency (particularly A, E, and K), and neurological problems. In addition, chronic kidney disease is often associated with low HDL-cholesterol conditions.

At Penn, our specialists provide an accurate diagnosis of your lipid profile to determine appropriate care and to identify additional family members who may also have the same condition. For some familial lipid disorders, genetic tests are available.

The interdisciplinary teams of physicians at Penn Medicine are ready to care for patients with various types of lipid disorders including:

  • High LDL-cholesterol:
    • Familial Hypercholesterolemia (FH)
  • High plant sterols (high LDL-cholesterol):
    • Sitosterolemia
  • High cholesterol and high triglyceride:
    • Familial Combined Dyslipidemia
    • Type III Dysbetalipoproteinemia
  • High triglyceride:
    • Familial Chylomicronemia (LPL or Apo CII deficiency)
    • Other primary chylomicronemia
  • Low LDL-cholesterol:
    • Abetalipoproteinemia
    • Hypobetalipoproteinemia
    • Chylomicron retention disease
  • Low HDL-cholesterol:
    • Tangier disease
    • LCAT deficiency (Fish Eye disease)
    • Apolipoprotein A-I deficiency
  • High HDL-cholesterol:
    • CETP deficiency
  • Other cholesterol related conditions:
    • Wolman disease (cholesteryl ester storage disease)
    • Cerebral Tendinous Xanthomatosis (CTX)
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